Variant report

Variant	esv274890
Chromosome Location	chr15:78396447-78402258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78251353..78252448-chr15:78400281..78401311,8	MCF-7	breast:
2	chr15:78400336..78401442-chr15:78532932..78533726,4	MCF-7	breast:
3	chr15:78293404..78294385-chr15:78400442..78401273,2	MCF-7	breast:
4	chr15:78394209..78398078-chr15:78398123..78400882,3	MCF-7	breast:
5	chr15:78251437..78252368-chr15:78400780..78401344,5	K562	blood:
6	chr15:78291946..78293315-chr15:78400365..78401521,34	MCF-7	breast:
7	chr15:78292154..78293026-chr15:78401681..78402212,2	MCF-7	breast:
8	chr15:78292095..78293104-chr15:78399979..78401592,9	MCF-7	breast:
9	chr15:78372548..78375148-chr15:78394682..78397059,2	MCF-7	breast:
10	chr15:78292050..78293044-chr15:78400416..78401371,3	K562	blood:
11	chr15:78367037..78369598-chr15:78400476..78402359,2	MCF-7	breast:
12	chr15:78360788..78361560-chr15:78400133..78400927,2	MCF-7	breast:
13	chr15:78400766..78401305-chr15:78487699..78488656,2	MCF-7	breast:
14	chr15:78369429..78370104-chr15:78400426..78400975,2	MCF-7	breast:
15	chr15:78392111..78393882-chr15:78397751..78399759,2	MCF-7	breast:
16	chr15:78394209..78398078-chr15:78398123..78400882,3	MCF-7	breast:
17	chr15:78258802..78259810-chr15:78400203..78401702,8	MCF-7	breast:
18	chr15:78298725..78300979-chr15:78395838..78398547,2	K562	blood:
19	chr15:78194874..78195656-chr15:78400670..78401266,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D2B-4	chr15:78400089-78400752	l_1195_chr15:78344341-78421177_testes

No data

Variant related genes	Relation type
ENSG00000167202	chromatin interactions

Extended variants
information (count: 250 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145170438	chr15:78396481-78396482	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374430240	chr15:78396528-78396529	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547612776	chr15:78396579-78396580	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114182238	chr15:78396591-78396592	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147583613	chr15:78396771-78396772	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs78675946	chr15:78396777-78396778	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs559223270	chr15:78396787-78396788	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs569629331	chr15:78396795-78396796	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs142038014	chr15:78396839-78396840	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs558332533	chr15:78396841-78396842	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs570355000	chr15:78396852-78396853	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs534409106	chr15:78396889-78396890	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs552823032	chr15:78396981-78396982	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs11547208	chr15:78397068-78397069	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs569398729	chr15:78397084-78397085	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs34228086	chr15:78397097-78397098	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs368347985	chr15:78397122-78397123	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs574359075	chr15:78397163-78397164	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs538062179	chr15:78397170-78397171	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs541478978	chr15:78397263-78397264	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs572702233	chr15:78397307-78397308	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs113657800	chr15:78397345-78397346	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs11341856	chr15:78397350-78397351	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs397774241	chr15:78397352-78397353	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs555217882	chr15:78397354-78397355	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs112196879	chr15:78397355-78397356	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs34665755	chr15:78397358-78397359	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs183764048	chr15:78397409-78397410	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs189616134	chr15:78397437-78397438	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs11633444	chr15:78397468-78397469	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs149170192	chr15:78397503-78397504	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs200382009	chr15:78397504-78397505	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs541491000	chr15:78397597-78397598	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs78925218	chr15:78397612-78397613	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs34428159	chr15:78397626-78397627	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs199938475	chr15:78397633-78397634	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs370359511	chr15:78397661-78397662	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs150209911	chr15:78397671-78397672	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs34431747	chr15:78397681-78397682	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs200153767	chr15:78397704-78397705	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs148233551	chr15:78397718-78397719	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs202201074	chr15:78397719-78397720	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs140416909	chr15:78397724-78397725	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs570292707	chr15:78397797-78397798	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs115035173	chr15:78397810-78397811	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs553000208	chr15:78397843-78397844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs568087127	chr15:78397844-78397845	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs7164338	chr15:78397846-78397847	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs556694212	chr15:78397848-78397849	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs575349607	chr15:78397893-78397894	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78385200-78400600	Weak transcription	Pancreas	Pancrea
2	chr15:78391800-78397000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:78392000-78400600	Strong transcription	Thymus	Thymus
4	chr15:78393200-78397000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr15:78393200-78398000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:78393200-78406000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:78393400-78401200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:78393800-78399200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr15:78394200-78399200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:78394600-78398600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr15:78394600-78398800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr15:78394800-78397400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr15:78394800-78398600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr15:78394800-78398600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr15:78394800-78398800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:78394800-78398800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:78394800-78398800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr15:78394800-78399000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr15:78395000-78396600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr15:78395000-78397000	Enhancers	Dnd41	blood
21	chr15:78395000-78397200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr15:78395000-78398600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr15:78395000-78398800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr15:78395000-78405600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:78395200-78396600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr15:78395200-78397600	Enhancers	Fetal Muscle Leg	muscle
27	chr15:78395200-78398000	Enhancers	Esophagus	oesophagus
28	chr15:78395200-78398200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr15:78395200-78398400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:78395200-78398600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:78395200-78398600	Genic enhancers	Fetal Thymus	thymus
32	chr15:78395200-78399000	Enhancers	Duodenum Mucosa	Duodenum
33	chr15:78395400-78396800	Enhancers	Primary hematopoietic stem cells	blood
34	chr15:78395400-78396800	Strong transcription	Fetal Intestine Large	intestine
35	chr15:78395400-78396800	Enhancers	Lung	lung
36	chr15:78395400-78398600	Enhancers	Spleen	Spleen
37	chr15:78395400-78405600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:78395600-78396600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr15:78395600-78396600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr15:78395600-78398800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr15:78395600-78399200	Genic enhancers	Fetal Intestine Small	intestine
42	chr15:78395800-78398400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:78395800-78398400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:78395800-78398600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:78395800-78400200	Strong transcription	Fetal Brain Female	brain
46	chr15:78396000-78396600	Strong transcription	Fetal Stomach	stomach
47	chr15:78396000-78396800	Enhancers	HUVEC	blood vessel
48	chr15:78396000-78398000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr15:78396000-78400000	Strong transcription	Brain Germinal Matrix	brain
50	chr15:78396000-78405400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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